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2. De novo DNM1 mutations in two cases of epileptic encephalopathy. Nakashima M; Kouga T; Lourenço CM; Shiina M; Goto T; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Ogata K; Osaka H; Matsumoto N Epilepsia; 2016 Jan; 57(1):e18-23. PubMed ID: 26611353 [TBL] [Abstract][Full Text] [Related]
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8. Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Nasca A; Legati A; Baruffini E; Nolli C; Moroni I; Ardissone A; Goffrini P; Ghezzi D Hum Mutat; 2016 Sep; 37(9):898-903. PubMed ID: 27328748 [TBL] [Abstract][Full Text] [Related]
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17. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. Vanstone JR; Smith AM; McBride S; Naas T; Holcik M; Antoun G; Harper ME; Michaud J; Sell E; Chakraborty P; Tetreault M; ; Majewski J; Baird S; Boycott KM; Dyment DA; MacKenzie A; Lines MA Eur J Hum Genet; 2016 Jul; 24(7):1084-8. PubMed ID: 26604000 [TBL] [Abstract][Full Text] [Related]
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